| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | LOC112533672, UNC13D (L940fs) | Deletion (frameshift variant) | Familial hemophagocytic lymphohistiocytosis 3 | |
| | | Single nucleotide variant (splice donor variant) | Familial hemophagocytic lymphohistiocytosis 3 | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Familial hemophagocytic lymphohistiocytosis 3 | |
| | | Single nucleotide variant (missense variant) | Familial hemophagocytic lymphohistiocytosis 3 | |
Click to view in NCBI Gene